Search Results - "Wertheim, K"

Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa by Has, C., Liu, L., Bolling, M.C., Charlesworth, A.V., El Hachem, M., Escámez, M.J., Fuentes, I., Büchel, S., Hiremagalore, R., Pohla‐Gubo, G., Akker, P.C., Wertheim‐Tysarowska, K., Zambruno, G.

“…Linked Comment: Uitto. Br J Dermatol 2020; 182:526–527. Plain language summary available online…”
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Amelioration of junctional epidermolysis bullosa due to exon skipping by Kowalewski, C., Bremer, J., Gostynski, A., Wertheim‐Tysarowska, K., Wozniak, K., Bal, J., Jonkman, M.F., Pasmooij, A.M.G.

“…Summary Mutations in the COL17A1 gene lead to the genetic blistering disorder junctional epidermolysis bullosa generalized intermediate type…”
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A multiscale orchestrated computational framework to reveal emergent phenomena in neuroblastoma by Borau, C., Wertheim, K.Y., Hervas-Raluy, S., Sainz-DeMena, D., Walker, D., Chisholm, R., Richmond, P., Varella, V., Viceconti, M., Montero, A., Gregori-Puigjané, E., Mestres, J., Kasztelnik, M., García-Aznar, J.M.

“…•Multi-scale neuroblastoma model for patient-specific simulations.•Model spans 9 orders of magnitude in space and time.•Cloud-based platform closes gap between…”
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Under-recognition of acral peeling skin syndrome: 59 new cases with 15 novel mutations by Szczecinska, W., Nesteruk, D., Wertheim-Tysarowska, K., Greenblatt, D.T., Baty, D., Browne, F., Liu, L., Ozoemena, L., Terron-Kwiatkowski, A., McGrath, J.A., Mellerio, J.E., Morton, J., Woźniak, K., Kowalewski, C., Has, C., Moss, C.

“…Summary Background Acral peeling skin syndrome (APSS) is a rare skin fragility disorder usually caused by mutations in the transglutaminase 5 gene (TGM5)…”
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Synchrotron radiation photoemission study of interfacial electronic structure of HfO2 on In0.53Ga0.47As(001)-4 × 2 from atomic layer deposition by Pi, T. W., Lin, T. D., Lin, H. Y., Chang, Y. C., Wertheim, G. K., Kwo, J., Hong, M.

“…The growth of a passivating layer on a In0.53Ga0.47As(001)-4 × 2 surface by atomic-layer deposition of tetrakis[ethylmethylamino]Hafnium (TEMAHf)) followed by…”
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Coexistence of KRT14 and KRT5 mutations in a Polish patient with epidermolysis bullosa simplex by Wertheim-Tysarowska, K., Sota, J., Kutkowska-Kaźmierczak, A., Woźniak, K., Bal, J., Kowalewski, C.

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Surface atoms core-level shifts in single crystal GaAs surfaces: Interactions with trimethylaluminum and water prepared by atomic layer deposition by Pi, T.W., Lin, H.Y., Chiang, T.H., Liu, Y.T., Chang, Y.C., Lin, T.D., Wertheim, G.K., Kwo, J., Hong, M.

“…•Demonstrations of high-resolution core-level photoelectron spectra of the untreated, atomically clean GaAs(111)A-2×2, GaAs(001)-4×6, and GaAs(001)-2×4 using…”
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New guidelines for the diagnosis of epidermolysis bullosa by Has, C., Liu, L., Bolling, M.C., Charlesworth, A.V., El Hachem, M., Escámez, M.J., Fuentes, I., Büchel, S., Hiremagalore, R., Pohla‐Gubo, G., Akker, P.C., Wertheim‐Tysarowska, K., Zambruno, G.

“…Summary Epidermolysis bullosa (EB) is a group of rare inherited disorders in which the skin is more fragile than usual, and outside forces like minor injury or…”
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Atom-to-atom interactions for atomic layer deposition of trimethylaluminum on Ga-rich GaAs(001)-4 × 6 and As-rich GaAs(001)-2 × 4 surfaces: a synchrotron radiation photoemission study by Pi, Tun-Wen, Lin, Hsiao-Yu, Liu, Ya-Ting, Lin, Tsung-Da, Wertheim, Gunther K, Kwo, Jueinai, Hong, Minghwei

“…High-resolution synchrotron radiation photoemission was employed to study the effects of atomic-layer-deposited trimethylaluminum (TMA) and water on Ga-rich…”
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Is c.1431-12G>A A common European mutation of SPINK5? report of a patient with Netherton Syndrome by Śmigiel, R, Królak-Olejnik, B, Śniegórska, D, Rozensztrauch, A, Szafrańska, A, Sasiadek, MM, Wertheim-Tysarowska, K

“…Netherton Syndrome (NS) is a very rare genetic skin disease resulting from defects in the gene (encoding the protease inhibitor lympho-epithelial Kazal type…”
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Prostaglandin-endoperoxide synthase genes COX1 and COX2 - novel modifiers of disease severity in cystic fibrosis patients by Czerska, K, Sobczynska-Tomaszewska, A, Sands, D, Nowakowska, A, Bak, D, Wertheim, K, Poznanski, J, Zielenski, J, Norek, A, Bal, J

“…Cystic fibrosis (CF) is one of the most common autosomal recessive diseases among Caucasians caused by a mutation in the CFTR gene. However, the clinical…”
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大疱性表皮松解症诊断的新指南 by Has, C., Liu, L., Bolling, M.C., Charlesworth, A.V., El Hachem, M., Escámez, M.J., Fuentes, I., Büchel, S., Hiremagalore, R., Pohla‐Gubo, G., Akker, P.C., Wertheim‐Tysarowska, K., Zambruno, G.

“…Summary 大疱性表皮松解症 (EB) 是一类罕见的遗传性疾病,其皮肤比平常更脆弱,外界力量(如轻伤或擦伤)会导致水泡或溃疡,愈合可能缓慢,并经常留下疤痕。EB 包含四种主要类型,包括 30 多种亚型。诊断基于临床表现,即其外观、遗传方式、皮肤分裂程度和遗传缺陷。 来自世界各国的一组专家代表慈善机构 DEBRA…”
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Surface-Atom Core-Level Shift in GaAs(111)A-2×2 by Pi, Tun-Wen, Chen, Bor-Rong, Huang, Mao-Lin, Chiang, Tsung-Hung, K. Wertheim, Gunther, Hong, Minghwei, Kwo, Jueinai

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Novel PLEC Variant Causes Mild Skin Fragility, Pyloric Atresia, Muscular Dystrophy and Urological Manifestations by Valari, Manthoula, Theodoraki, Martha, Loukas, Ierotheos, Gkantseva-Patsoura, Sylvia, Karavana, Georgia, Falaina, Vasiliki, Lykopoulou, Lilia, Pons, Roser, Athanasiou, Ioannis, Wertheim-Tysarowska, Katarzyna, Kanaka-Gantenbein, Christina, Kiritsi, Dimitra

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Clinical characteristics of infants diagnosed through cystic fibrosis newborn screening (CF NBS) by Sands, D, Zybert, K, Oltarzewski, M, Sobczynska-Tomaszewska, A, Nowakowska, A, Walicka, K, Wertheim, K, Piotrowski, R

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Genetic aspect of two-year experience in cystic fibrosis newborn screening program in Poland by Norek, A, Sobczynska-Tomaszewska, A, Oltarzewski, M, Wertheim, K, Czerska, K, Sands, D, Zybert, K, Bal, J

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TRPV6 functionally defective variants are associated with chronic pancreatitis in non-alcoholic early-onset polish and German patients by Rygiel, A.M., Oracz, G., Zarod, M., Ewers, M., Laumen, H., Gambin, T., Grabowska, I., Drozak, A., Kwiatkowski, S., Wertheim-Tysarowska, K., Kolodziejczyk, E., Kosinska, J., Gluszek, S., Koziel, D., Ploski, R., Rosendahl, J., Witt, H., Drozak, J.

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TRPV6-defective variants are associated with chronic pancreatitis in Polish pediatric patients by Oracz, G., Zarod, M., Gambin, T., Drozak, A., Kwiatkowski, S., Wertheim-Tysarowska, K., Kolodziejczyk, E., Sawicka, J., Jackiewicz, M., Kosinska, J., Koziel, D., Gluszek, S., Ploski, R., Bal, J., Drozak, J., Rygiel, A.

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COX2 as a protective modifier of CF pulmonary disease severity by Czerska, K, Sobczynska-Tomaszewska, A, Sands, D, Nowakowska, A, Wertheim, K, Bak, D, Zielenski, J, Bai, J

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Does the R117H mutation cause cystic fibrosis or not? by Norek, A, Sobczynska-Tomaszewska, A, Wolski, J.K, Sands, D, Trawinska-Bartnicka, M, Sapiejko, E, Czerska, K, Wertheim, K, Bai, J

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